Derralynn A. Hughes

This study investigates the relationship between mitochondrial stress markers and clinical outcomes in Fabry disease patients, finding that Hsp60 levels correlate with disease severity in specific genotypes.

This study shows that PIKfyve inhibition reduces alpha-synuclein aggregates in a Parkinson's disease model by enhancing lysosomal biogenesis through TFEB activation.

This study examines sex differences in GLA protein processing and its impact on disease severity in Fabry disease, finding that females have higher GLA activity and mature protein levels associated with less severe outcomes.

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.